NM_000170.3(GLDC):c.*7G>C
|
rs2228098
|
0.66615
|
NM_000170.3(GLDC):c.470+125T>C
|
rs2118653
|
0.65503
|
NM_000170.3(GLDC):c.1850+87T>A
|
rs968197
|
0.52530
|
NM_000170.3(GLDC):c.1708-222G>A
|
rs7022724
|
0.52408
|
NM_000170.3(GLDC):c.1708-171C>T
|
rs7021684
|
0.51841
|
NM_000170.3(GLDC):c.2315+111C>T
|
rs4740848
|
0.49930
|
NM_000170.3(GLDC):c.2839-57A>G
|
rs2282160
|
0.42304
|
NM_000170.3(GLDC):c.2839-201G>A
|
rs2282159
|
0.42094
|
NM_000170.3(GLDC):c.2919+242C>T
|
rs2282162
|
0.40594
|
NM_000170.3(GLDC):c.2569+269T>C
|
rs28499127
|
0.40420
|
NM_000170.3(GLDC):c.636-77A>G
|
rs10975681
|
0.30978
|
NM_000170.3(GLDC):c.256-240G>A
|
rs1755617
|
0.28160
|
NM_000170.3(GLDC):c.471-232A>C
|
rs12341084
|
0.27737
|
NC_000009.12:g.6645911C>T
|
rs7023606
|
0.27342
|
NM_000170.3(GLDC):c.2315+80C>G
|
rs12683164
|
0.27069
|
NM_000170.3(GLDC):c.1261+72G>A
|
rs6477094
|
0.25439
|
NM_000170.3(GLDC):c.1261+334C>T
|
rs10975669
|
0.25012
|
NM_000170.3(GLDC):c.1482+171A>G
|
rs62568998
|
0.23175
|
NM_000170.3(GLDC):c.501G>A (p.Glu167=)
|
rs35374927
|
0.22564
|
NM_000170.3(GLDC):c.249G>A (p.Gly83=)
|
rs12341698
|
0.21682
|
NM_000170.3(GLDC):c.2203-298T>C
|
rs1929933
|
0.21451
|
NM_000170.3(GLDC):c.1261+36A>G
|
rs11789777
|
0.20837
|
NM_000170.3(GLDC):c.2838+89C>A
|
rs3765555
|
0.20824
|
NM_000170.3(GLDC):c.1059-169G>A
|
rs12683330
|
0.20375
|
NM_000170.3(GLDC):c.1058+144A>T
|
rs41303229
|
0.18888
|
NM_000170.3(GLDC):c.1058+247T>A
|
rs62569040
|
0.18428
|
NM_000170.3(GLDC):c.2569+261C>T
|
rs145062104
|
0.14982
|
NM_000170.3(GLDC):c.2570-195A>G
|
rs2297443
|
0.14749
|
NM_000170.3(GLDC):c.2839-269G>A
|
rs2282158
|
0.14601
|
NM_000170.3(GLDC):c.2919+272T>A
|
rs3818705
|
0.14198
|
NM_000170.3(GLDC):c.470+189G>C
|
rs4740853
|
0.14131
|
NM_000170.3(GLDC):c.2315+289C>T
|
rs62568964
|
0.10824
|
NM_000170.3(GLDC):c.1482+281T>C
|
rs113326675
|
0.07694
|
NM_000170.3(GLDC):c.660C>T (p.Leu220=)
|
rs2228095
|
0.07130
|
NM_000170.3(GLDC):c.438G>A (p.Thr146=)
|
rs13289273
|
0.06458
|
NM_000170.3(GLDC):c.713+204G>T
|
rs13298254
|
0.06284
|
NM_000170.3(GLDC):c.1708-76G>A
|
rs113794486
|
0.05397
|
NM_000170.3(GLDC):c.2202+303C>G
|
rs16924687
|
0.04776
|
NM_000170.3(GLDC):c.1262-81C>G
|
rs73400317
|
0.04699
|
NM_000170.3(GLDC):c.1851-268G>A
|
rs16924691
|
0.04254
|
NM_000170.3(GLDC):c.2569+265T>G
|
rs112627227
|
0.04181
|
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val)
|
rs73400312
|
0.04004
|
NM_000170.3(GLDC):c.471-107T>C
|
rs116286048
|
0.03452
|
NM_000170.3(GLDC):c.470+76C>T
|
rs115202450
|
0.03321
|
NM_000170.3(GLDC):c.470+177G>A
|
rs114125810
|
0.03315
|
NM_000170.3(GLDC):c.1401+48_1401+49insC
|
rs374237787
|
0.02900
|
NM_000170.3(GLDC):c.1401+48T>C
|
rs79260957
|
0.02573
|
NM_000170.3(GLDC):c.666T>C (p.Asp222=)
|
rs12004164
|
0.02547
|
NM_000170.3(GLDC):c.1155+43C>T
|
rs7040427
|
0.02526
|
NM_000170.3(GLDC):c.1059-122T>C
|
rs7026782
|
0.02519
|
NM_000170.3(GLDC):c.862-66C>G
|
rs7019384
|
0.02508
|
NM_000170.3(GLDC):c.714-36G>A
|
rs7023971
|
0.02495
|
NM_000170.3(GLDC):c.1707+174G>A
|
rs45582831
|
0.02441
|
NM_000170.3(GLDC):c.1156-56A>G
|
rs112438601
|
0.02436
|
NM_000170.3(GLDC):c.1156-153A>T
|
rs57964364
|
0.02434
|
NM_000170.3(GLDC):c.1156-204C>T
|
rs59998046
|
0.02433
|
NM_000170.3(GLDC):c.1482+19T>C
|
rs79114789
|
0.02433
|
NM_000170.3(GLDC):c.1402-299T>C
|
rs80185476
|
0.02430
|
NM_000170.3(GLDC):c.1402-294A>C
|
rs77756489
|
0.02426
|
NM_000170.3(GLDC):c.1262-208T>G
|
rs79119366
|
0.02382
|
NM_000170.3(GLDC):c.1927-172C>T
|
rs78216226
|
0.02258
|
NM_000170.3(GLDC):c.1156-293A>G
|
rs6477095
|
0.02230
|
NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02214
|
NM_000170.3(GLDC):c.1262-272C>T
|
rs189987755
|
0.02110
|
NM_000170.3(GLDC):c.1581-118G>A
|
rs78650694
|
0.02087
|
NM_000170.3(GLDC):c.1058+81C>G
|
rs113067442
|
0.02002
|
NM_000170.3(GLDC):c.862-111G>T
|
rs7020315
|
0.01979
|
NM_000170.3(GLDC):c.256-217A>C
|
rs58925857
|
0.01973
|
NM_000170.3(GLDC):c.636-29C>T
|
rs111289173
|
0.01928
|
NM_000170.3(GLDC):c.1580+56T>C
|
rs80318432
|
0.01800
|
NM_000170.3(GLDC):c.1483-122A>T
|
rs74719183
|
0.01793
|
NM_000170.3(GLDC):c.1483-156C>A
|
rs115703938
|
0.01789
|
NM_000170.3(GLDC):c.335-53G>C
|
rs59213782
|
0.01606
|
NM_000170.3(GLDC):c.2839-148T>C
|
rs113830924
|
0.01588
|
NM_000170.3(GLDC):c.2838+177A>G
|
rs115627735
|
0.01575
|
NM_000170.3(GLDC):c.2838+263T>C
|
rs75645738
|
0.01571
|
NM_000170.3(GLDC):c.2919+289G>A
|
rs75439312
|
0.01524
|
NC_000009.12:g.6645952G>A
|
rs115605178
|
0.01512
|
NM_000170.3(GLDC):c.1156-266A>C
|
rs57793935
|
0.01367
|
NM_000170.3(GLDC):c.1815C>T (p.Leu605=)
|
rs74461075
|
0.01328
|
NM_000170.3(GLDC):c.2569+229T>G
|
rs190998558
|
0.01233
|
NM_000170.3(GLDC):c.2203-19G>A
|
rs13440229
|
0.01223
|
NM_000170.3(GLDC):c.334+292C>G
|
rs112357157
|
0.01192
|
NM_000170.3(GLDC):c.2666-156A>G
|
rs112921617
|
0.01132
|
NM_000170.3(GLDC):c.636-21T>A
|
rs78949122
|
0.01076
|
NM_000170.3(GLDC):c.2839-294T>C
|
rs112581576
|
0.01060
|
NM_000170.3(GLDC):c.256-253del
|
rs142074946
|
0.01042
|
NM_000170.3(GLDC):c.*257G>A
|
rs111326356
|
0.00972
|
NM_000170.3(GLDC):c.2666-134C>G
|
rs149860035
|
0.00959
|
NM_000170.3(GLDC):c.1483-85G>A
|
rs141351353
|
0.00886
|
NM_000170.3(GLDC):c.636-279C>A
|
rs142517068
|
0.00886
|
NM_000170.3(GLDC):c.1402-62G>T
|
rs41281775
|
0.00877
|
NM_000170.3(GLDC):c.2920-169G>A
|
rs143140771
|
0.00851
|
NM_000170.3(GLDC):c.471-127G>C
|
rs60858072
|
0.00740
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
NM_000170.3(GLDC):c.2202+190A>C
|
rs149596639
|
0.00698
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_000170.3(GLDC):c.470+310C>T
|
rs115255756
|
0.00660
|
NM_000170.3(GLDC):c.2570-22C>G
|
rs200609000
|
0.00632
|
NM_000170.3(GLDC):c.1482+282C>T
|
rs150489509
|
0.00621
|
NM_000170.3(GLDC):c.2919+3A>G
|
rs73639325
|
0.00620
|
NM_000170.3(GLDC):c.2570-264G>A
|
rs147032304
|
0.00612
|
NM_000170.3(GLDC):c.635+286G>T
|
rs112429519
|
0.00609
|
NM_000170.3(GLDC):c.1482+22G>A
|
rs78073049
|
0.00585
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_000170.3(GLDC):c.2052+249C>G
|
rs59823389
|
0.00540
|
NM_000170.3(GLDC):c.2569+292G>A
|
rs186384743
|
0.00493
|
NM_000170.3(GLDC):c.2665+35G>A
|
rs147640872
|
0.00490
|
NM_000170.3(GLDC):c.2920-168G>C
|
rs12351820
|
0.00459
|
NM_000170.3(GLDC):c.1058+38A>G
|
rs113320747
|
0.00455
|
NM_000170.3(GLDC):c.2457+8C>T
|
rs147308839
|
0.00421
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_000170.3(GLDC):c.1851-57T>C
|
rs144562176
|
0.00406
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_000170.3(GLDC):c.1401+234A>G
|
rs75008919
|
0.00395
|
NM_000170.3(GLDC):c.636-260C>T
|
rs138439195
|
0.00350
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
NM_000170.3(GLDC):c.470+174A>G
|
rs148400315
|
0.00336
|
NM_000170.3(GLDC):c.334+67G>C
|
rs139883661
|
0.00307
|
NM_000170.3(GLDC):c.2457+253C>T
|
rs142919574
|
0.00290
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)
|
rs139982267
|
0.00203
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser)
|
rs182760732
|
0.00197
|
NM_000170.3(GLDC):c.2569+296C>T
|
rs181172238
|
0.00191
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
NM_000170.3(GLDC):c.862-46A>G
|
rs145666264
|
0.00180
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)
|
rs140516872
|
0.00127
|
NM_000170.3(GLDC):c.256-100C>T
|
rs533513421
|
0.00126
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_000170.3(GLDC):c.222C>T (p.Asp74=)
|
rs148373517
|
0.00096
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_000170.3(GLDC):c.936C>T (p.Ile312=)
|
rs79057118
|
0.00058
|
NM_000170.3(GLDC):c.470+11T>C
|
rs142534180
|
0.00051
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_000170.3(GLDC):c.45G>A (p.Gly15=)
|
rs577986419
|
0.00045
|
NM_000170.3(GLDC):c.166C>T (p.Leu56Phe)
|
rs374342418
|
0.00044
|
NM_000170.3(GLDC):c.1262-33A>G
|
rs147414011
|
0.00043
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000170.3(GLDC):c.698T>C (p.Val233Ala)
|
rs140013612
|
0.00034
|
NM_000170.3(GLDC):c.1483-27C>T
|
rs184908720
|
0.00032
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_000170.3(GLDC):c.329C>A (p.Pro110His)
|
rs371491621
|
0.00029
|
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg)
|
rs190430477
|
0.00028
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
NM_000170.3(GLDC):c.619C>G (p.Leu207Val)
|
rs142181803
|
0.00027
|
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)
|
rs150943866
|
0.00026
|
NM_000170.3(GLDC):c.2316-13A>C
|
rs200931138
|
0.00024
|
NM_000170.3(GLDC):c.1932C>T (p.Cys644=)
|
rs111348076
|
0.00021
|
NM_000170.3(GLDC):c.2244G>A (p.Ser748=)
|
rs372693840
|
0.00019
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)
|
rs367781728
|
0.00017
|
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu)
|
rs150698281
|
0.00016
|
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn)
|
rs763471932
|
0.00014
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
NM_000170.3(GLDC):c.1851-9C>G
|
rs377751310
|
0.00013
|
NM_000170.3(GLDC):c.1752T>C (p.Pro584=)
|
rs150647379
|
0.00012
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
NM_000170.3(GLDC):c.2203-12C>T
|
rs767258496
|
0.00010
|
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser)
|
rs375850752
|
0.00010
|
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg)
|
rs370061961
|
0.00010
|
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val)
|
rs150833015
|
0.00009
|
NM_000170.3(GLDC):c.832G>A (p.Glu278Lys)
|
rs779837711
|
0.00008
|
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr)
|
rs775834004
|
0.00007
|
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser)
|
rs555919940
|
0.00007
|
NM_000170.3(GLDC):c.661G>A (p.Val221Ile)
|
rs144043066
|
0.00007
|
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys)
|
rs141065026
|
0.00006
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
NM_000170.3(GLDC):c.2810G>A (p.Arg937His)
|
rs151100082
|
0.00006
|
NM_000170.3(GLDC):c.2919C>T (p.Leu973=)
|
rs113736090
|
0.00006
|
NM_000170.3(GLDC):c.2920-8C>T
|
rs138786708
|
0.00006
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
NM_000170.3(GLDC):c.1149A>G (p.Thr383=)
|
rs146499591
|
0.00005
|
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala)
|
rs201890453
|
0.00005
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe)
|
rs747736821
|
0.00005
|
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile)
|
rs200413149
|
0.00005
|
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile)
|
rs750883330
|
0.00004
|
NM_000170.3(GLDC):c.2035G>A (p.Val679Ile)
|
rs778376889
|
0.00004
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly)
|
rs778000679
|
0.00004
|
NM_000170.3(GLDC):c.2565A>C (p.Ala855=)
|
rs966395392
|
0.00004
|
NM_000170.3(GLDC):c.292A>G (p.Asn98Asp)
|
rs750964572
|
0.00004
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)
|
rs121964979
|
0.00003
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
NM_000170.3(GLDC):c.1483-6C>T
|
rs1442788186
|
0.00003
|
NM_000170.3(GLDC):c.183C>A (p.Asp61Glu)
|
rs375497905
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000170.3(GLDC):c.1161C>T (p.Leu387=)
|
rs781613958
|
0.00002
|
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln)
|
rs777365335
|
0.00002
|
NM_000170.3(GLDC):c.1580+5G>C
|
rs764790596
|
0.00002
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys)
|
rs766928717
|
0.00002
|
NM_000170.3(GLDC):c.549G>A (p.Val183=)
|
rs371771891
|
0.00002
|
NM_000170.3(GLDC):c.1182G>A (p.Met394Ile)
|
rs1249681861
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000170.3(GLDC):c.1333T>C (p.Ser445Pro)
|
rs756770984
|
0.00001
|
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp)
|
rs773119895
|
0.00001
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly)
|
rs755680488
|
0.00001
|
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu)
|
rs1296797567
|
0.00001
|
NM_000170.3(GLDC):c.2053G>T (p.Val685Leu)
|
rs367988640
|
0.00001
|
NM_000170.3(GLDC):c.2474G>A (p.Gly825Asp)
|
rs906049409
|
0.00001
|
NM_000170.3(GLDC):c.2831C>T (p.Pro944Leu)
|
rs374969047
|
0.00001
|
NM_000170.3(GLDC):c.328C>T (p.Pro110Ser)
|
rs866641732
|
0.00001
|
NM_000170.3(GLDC):c.437C>T (p.Thr146Met)
|
rs376578742
|
0.00001
|
NM_000170.3(GLDC):c.446G>A (p.Arg149Gln)
|
rs538431715
|
0.00001
|
NM_000170.3(GLDC):c.503T>C (p.Val168Ala)
|
rs1241332349
|
0.00001
|
NM_000170.3(GLDC):c.544A>G (p.Met182Val)
|
rs541691467
|
0.00001
|
NM_000170.3(GLDC):c.63C>A (p.Arg21=)
|
rs372141443
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000170.3(GLDC):c.838G>A (p.Val280Met)
|
rs1258949524
|
0.00001
|
NM_000170.3(GLDC):c.862-12C>G
|
rs767628262
|
0.00001
|
NC_000009.12:g.6645935G>A
|
rs191237887
|
|
NM_000170.3(GLDC):c.*162G>A
|
rs12350734
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1059-189dup
|
rs879833847
|
|
NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe)
|
rs1563852496
|
|
NM_000170.3(GLDC):c.1261+183CTTT[6]
|
rs78626191
|
|
NM_000170.3(GLDC):c.1261+183CTTT[8]
|
rs78626191
|
|
NM_000170.3(GLDC):c.1261+183CTTT[9]
|
rs78626191
|
|
NM_000170.3(GLDC):c.1261+216C>A
|
rs140706192
|
|
NM_000170.3(GLDC):c.1262-296AT[10]
|
rs34438524
|
|
NM_000170.3(GLDC):c.1262-296AT[11]
|
rs34438524
|
|
NM_000170.3(GLDC):c.1262-298_1262-297insA
|
rs1377266695
|
|
NM_000170.3(GLDC):c.1262-299_1262-298insA
|
rs1466793435
|
|
NM_000170.3(GLDC):c.1262-318dup
|
rs773281544
|
|
NM_000170.3(GLDC):c.1300T>C (p.Phe434Leu)
|
|
|
NM_000170.3(GLDC):c.1340A>T (p.Lys447Met)
|
rs1161073883
|
|
NM_000170.3(GLDC):c.1372A>T (p.Ile458Phe)
|
|
|
NM_000170.3(GLDC):c.1394A>G (p.Asp465Gly)
|
rs2129852952
|
|
NM_000170.3(GLDC):c.1401+5G>A
|
|
|
NM_000170.3(GLDC):c.1401+64G>C
|
rs77808781
|
|
NM_000170.3(GLDC):c.1402-84G>A
|
rs76153763
|
|
NM_000170.3(GLDC):c.1482+283C>T
|
rs140734664
|
|
NM_000170.3(GLDC):c.1484_1489del
|
rs778109389
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu)
|
rs761064507
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.1581-67G>T
|
rs77712643
|
|
NM_000170.3(GLDC):c.1665+50G>C
|
rs75713620
|
|
NM_000170.3(GLDC):c.1707+109G>T
|
rs78601535
|
|
NM_000170.3(GLDC):c.172C>T (p.Pro58Ser)
|
rs780963698
|
|
NM_000170.3(GLDC):c.1831G>C (p.Val611Leu)
|
rs1554646513
|
|
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly)
|
rs779980470
|
|
NM_000170.3(GLDC):c.1893C>T (p.Ala631=)
|
rs565751857
|
|
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)
|
rs141601131
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
NM_000170.3(GLDC):c.1914G>C (p.Glu638Asp)
|
rs1200000126
|
|
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
|
rs386833536
|
|
NM_000170.3(GLDC):c.2011G>C (p.Asp671His)
|
rs2129734998
|
|
NM_000170.3(GLDC):c.2169G>T (p.Gln723His)
|
rs2129725996
|
|
NM_000170.3(GLDC):c.2202+112C>T
|
rs77765174
|
|
NM_000170.3(GLDC):c.2203-63C>G
|
rs2274874
|
|
NM_000170.3(GLDC):c.2212T>G (p.Cys738Gly)
|
rs375850752
|
|
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)
|
rs386833551
|
|
NM_000170.3(GLDC):c.2297G>A (p.Gly766Asp)
|
|
|
NM_000170.3(GLDC):c.2316-13_2316-12dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2353G>A (p.Val785Ile)
|
rs372101832
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
NM_000170.3(GLDC):c.2457+314A>G
|
rs4512434
|
|
NM_000170.3(GLDC):c.2458-300C>G
|
rs3739653
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2462T>C (p.Met821Thr)
|
|
|
NM_000170.3(GLDC):c.247G>C (p.Gly83Arg)
|
rs946962875
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.2490G>T (p.Thr830=)
|
rs145407593
|
|
NM_000170.3(GLDC):c.2510C>T (p.Ala837Val)
|
rs1157130507
|
|
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys)
|
rs386833561
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.2528G>A (p.Arg843Gln)
|
rs1422108790
|
|
NM_000170.3(GLDC):c.255+240_255+242del
|
rs144456963
|
|
NM_000170.3(GLDC):c.256-233G>C
|
rs10975711
|
|
NM_000170.3(GLDC):c.2569+314A>G
|
rs12347488
|
|
NM_000170.3(GLDC):c.2569+69C>A
|
rs34948145
|
|
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met)
|
rs375375700
|
|
NM_000170.3(GLDC):c.2617T>A (p.Ser873Thr)
|
|
|
NM_000170.3(GLDC):c.2632G>A (p.Ala878Thr)
|
rs2129663107
|
|
NM_000170.3(GLDC):c.276G>C (p.Glu92Asp)
|
rs2130029415
|
|
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)
|
rs758029533
|
|
NM_000170.3(GLDC):c.2838+108C>G
|
rs3765556
|
|
NM_000170.3(GLDC):c.2894C>T (p.Ser965Phe)
|
rs1489390970
|
|
NM_000170.3(GLDC):c.2919+137T>C
|
rs12339602
|
|
NM_000170.3(GLDC):c.2919+5G>T
|
rs768091555
|
|
NM_000170.3(GLDC):c.294C>A (p.Asn98Lys)
|
rs1819702080
|
|
NM_000170.3(GLDC):c.2995G>A (p.Val999Ile)
|
rs2129641188
|
|
NM_000170.3(GLDC):c.3002C>T (p.Thr1001Ile)
|
rs555776146
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+247G>C
|
rs34073615
|
|
NM_000170.3(GLDC):c.335-106T>C
|
rs139533511
|
|
NM_000170.3(GLDC):c.335-165del
|
rs34280433
|
|
NM_000170.3(GLDC):c.43G>A (p.Gly15Arg)
|
|
|
NM_000170.3(GLDC):c.488C>T (p.Pro163Leu)
|
|
|
NM_000170.3(GLDC):c.502G>A (p.Val168Met)
|
rs936791052
|
|
NM_000170.3(GLDC):c.580G>A (p.Ala194Thr)
|
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
NM_000170.3(GLDC):c.635G>T (p.Arg212Ile)
|
rs386833584
|
|
NM_000170.3(GLDC):c.636-126C>T
|
rs147868538
|
|
NM_000170.3(GLDC):c.713+202G>A
|
rs28367179
|
|
NM_000170.3(GLDC):c.713+262_713+267del
|
rs1361187578
|
|
NM_000170.3(GLDC):c.713+263_713+264dup
|
rs56758871
|
|
NM_000170.3(GLDC):c.713+263dup
|
rs56758871
|
|
NM_000170.3(GLDC):c.713+280_713+282del
|
rs56758871
|
|
NM_000170.3(GLDC):c.713+281_713+282del
|
rs56758871
|
|
NM_000170.3(GLDC):c.714-15_714-13del
|
rs780790361
|
|
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu)
|
rs1038444873
|
|
NM_000170.3(GLDC):c.824A>T (p.Asp275Val)
|
|
|
NM_000170.3(GLDC):c.861+139C>A
|
rs7019544
|
|
NM_000170.3(GLDC):c.861+37G>A
|
rs141610980
|
|
NM_000170.3(GLDC):c.861+5G>C
|
rs192663616
|
|
NM_000170.3(GLDC):c.8C>A (p.Ser3Tyr)
|
|
|
NM_000170.3(GLDC):c.932A>G (p.Asp311Gly)
|
rs2129896343
|
|